Association of genetic polymorphisms with chronic obstructive pulmonary disease in the Hainan population: a case-control study.

Chronic obstructive pulmonary disease (COPD) is predicted to become the third most common cause of death and the fifth most common cause of disability in the world by 2020. Recently, variants in the hypoxia-inducible factor 1α (HIF1A), cholinergic receptor, neuronal nicotinic, alpha polypeptide-5, and iron-responsive element-binding protein 2 gene (IREB2) genes were found to be associated with COPD. This study aims to identify whether the variations in these genes are related to COPD in the Hainan population of the People’s Republic of China. We genotyped 12 single nucleotide polymorphisms in a case-control study with 200 COPD cases and 401 controls from Hainan, People’s Republic of China. Odds ratios and 95% confidence intervals were estimated using the chi-squared (χ2) test, genetic model analysis, haplotype analysis, and stratification analysis. In the genetic model analysis, we found that the genotype T/T of rs13180 of IREB2 decreased the COPD risk by 0.52-fold (P=0.025). But in the further stratification analysis, we failed to find the association between the selected single nucleotide polymorphisms with COPD risk in Han population. In addition, the haplotype analysis of HIF1A gene also was not found to be the possible haplotype associated with COPD risk. Our results support that IREB2 rs13180 is associated with COPD in Hainan population. And this is the first time the HIF1A polymorphisms in COPD in a Chinese population has been reported, although we failed to find any significant result.

到2020年，慢性阻塞性肺疾病（COPD）预计将成为全球第三大常见死因和第五大致残原因。近期，发现缺氧诱导因子1α（HIF1A）、胆碱能受体、神经元烟碱型α多肽 - 5以及铁反应元件结合蛋白2基因（IREB2）的变异与COPD有关。本研究旨在确定这些基因的变异在中国海南人群中是否与COPD相关。 我们在中国海南的200例COPD病例和401例对照的病例对照研究中对12个单核苷酸多态性进行了基因分型。使用卡方（χ²）检验、遗传模型分析、单倍型分析和分层分析来估算比值比和95%置信区间。 在遗传模型分析中，我们发现IREB2的rs13180基因型T/T使COPD风险降低了0.52倍（P = 0.025）。但在进一步的分层分析中，我们未能发现所选单核苷酸多态性与汉族人群的COPD风险之间存在关联。此外，也未发现HIF1A基因的单倍型分析存在与COPD风险相关的可能单倍型。 我们的研究结果支持IREB2 rs13180与海南人群的COPD相关。并且这是首次报道中国人群中COPD的HIF1A多态性情况，尽管我们未发现任何显著结果。